CST6 (cystatin E/M) - Rat Genome Database

Name: CST6
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: CST6 (cystatin E/M) Homo sapiens

Analyze

Symbol:

CST6

Name:

cystatin E/M

RGD ID:

1352727

HGNC Page

HGNC

Description:

Predicted to have cysteine-type endopeptidase inhibitor activity. Predicted to be involved in anatomical structure morphogenesis. Localizes to extracellular exosome. Implicated in ectodermal dysplasia 15.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

cystatin 6; cystatin M; cystatin M/E; cystatin-6; cystatin-E; cystatin-M; cysteine proteinase inhibitor; ECTD15

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Cst6 (cystatin E/M)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB
Rattus norvegicus (Norway rat):	Cst6 (cystatin E/M)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Cst6 (cystatin E/M)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CST6 (cystatin E/M)	NCBI	Ortholog
Canis lupus familiaris (dog):	CST6 (cystatin E/M)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Cst6 (cystatin E/M)	NCBI	Ortholog
Sus scrofa (pig):	CST6 (cystatin E/M)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther
Chlorocebus sabaeus (African green monkey):	CST6 (cystatin E/M)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Cst6 (cystatin E/M)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Cst6 (cystatin E/M)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Mus musculus (house mouse):	Cst6 (cystatin E/M)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup)
Caenorhabditis elegans (roundworm):	cpi-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder)
Caenorhabditis elegans (roundworm):	cpi-2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PhylomeDB)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	11	66,012,008 - 66,013,505 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	11	66,012,008 - 66,013,505 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	11	65,779,479 - 65,780,976 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	65,536,038 - 65,537,552 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	11	65,536,037 - 65,537,551	NCBI
Celera	11	63,104,649 - 63,105,332 (+)	NCBI
Cytogenetic Map	11	q13.1	NCBI
HuRef	11	62,105,544 - 62,107,045 (+)	NCBI		HuRef
CHM1_1	11	65,663,579 - 65,665,098 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autosomal recessive congenital ichthyosis 4B (ISS)

autosomal recessive cutis laxa type IB (IAGP)

Breast Neoplasms (EXP)

ectodermal dysplasia 15 (IAGP)

lung non-small cell carcinoma (EXP)

melanoma (EXP)

Prostatic Neoplasms (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2-hydroxypropanoic acid (EXP)

3-isobutyl-1-methyl-7H-xanthine (EXP)

5-aza-2'-deoxycytidine (EXP)

6-propyl-2-thiouracil (ISO)

8-Br-cAMP (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

amiodarone (EXP)

ammonium chloride (ISO)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP,ISO)

bis(2-chloroethyl) sulfide (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

butan-1-ol (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP,ISO)

calcitriol (EXP)

carbamazepine (EXP)

cobalt atom (EXP)

cobalt dichloride (EXP)

copper atom (EXP,ISO)

copper(0) (EXP,ISO)

cyclosporin A (EXP)

dexamethasone (EXP)

disulfiram (EXP)

diuron (ISO)

dorsomorphin (EXP)

endosulfan (ISO)

entinostat (EXP)

fenvalerate (ISO)

furan (ISO)

graphite (ISO)

hydroquinone (EXP)

L-ascorbic acid (ISO)

methotrexate (EXP)

N-methyl-4-phenylpyridinium (ISO)

N-nitrosodiethylamine (EXP)

PCB138 (ISO)

phenylmercury acetate (EXP)

pirinixic acid (ISO)

potassium dichromate (EXP,ISO)

rac-lactic acid (EXP)

SB 431542 (EXP)

silver atom (ISO)

silver(0) (ISO)

sodium arsenate (EXP)

Tanshinone I (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

trichostatin A (EXP)

triclosan (EXP)

Tungsten carbide (EXP)

zearalenone (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

anatomical structure morphogenesis (TAS)

epidermis development (IEA,ISO)

negative regulation of endopeptidase activity (IEA)

Cellular Component

cornified envelope (IEA,ISO)

extracellular exosome (HDA)

Molecular Function

cysteine-type endopeptidase inhibitor activity (IEA)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autosomal recessive inheritance (IAGP)

Blepharitis (IAGP)

Dry skin (IAGP)

Hypohidrosis (IAGP)

Photophobia (IAGP)

Slow-growing hair (IAGP)

Sparse body hair (IAGP)

Sparse eyelashes (IAGP)

References

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:2029847	PMID:3202964	PMID:8179826	PMID:8995380	PMID:9007972	PMID:9099741	PMID:9154125	PMID:11348457	PMID:12477932	PMID:12839564	PMID:14676833	PMID:14702039
PMID:15466187	PMID:15489334	PMID:16356477	PMID:16565075	PMID:16912163	PMID:17043665	PMID:17099723	PMID:17540367	PMID:18506750	PMID:18607344	PMID:18676742	PMID:18754876
PMID:19005484	PMID:19074894	PMID:19262604	PMID:19503093	PMID:19551853	PMID:20074384	PMID:21092257	PMID:21900206	PMID:22688893	PMID:22902879	PMID:23006792	PMID:23088560
PMID:23376485	PMID:23533145	PMID:23537643	PMID:24742492	PMID:24927181	PMID:25640309	PMID:26186194	PMID:26485645	PMID:27090639	PMID:27173435	PMID:28514442	PMID:28630039
PMID:29229926	PMID:29509190	PMID:29530995	PMID:30425301	PMID:32296183

Genomics

Comparative Map Data

CST6
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	11	66,012,008 - 66,013,505 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	11	66,012,008 - 66,013,505 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	11	65,779,479 - 65,780,976 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	65,536,038 - 65,537,552 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	11	65,536,037 - 65,537,551	NCBI
Celera	11	63,104,649 - 63,105,332 (+)	NCBI
Cytogenetic Map	11	q13.1	NCBI
HuRef	11	62,105,544 - 62,107,045 (+)	NCBI		HuRef
CHM1_1	11	65,663,579 - 65,665,098 (+)	NCBI		CHM1_1

Cst6
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	5,394,733 - 5,399,602 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	19	5,394,733 - 5,399,602 (-)	Ensembl
GRCm38	19	5,344,705 - 5,349,574 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	5,344,705 - 5,349,574 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	5,344,705 - 5,349,574 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	19	5,344,705 - 5,349,574 (-)	NCBI			mm8
Celera	19	5,216,597 - 5,221,470 (-)	NCBI		Celera
Cytogenetic Map	19	A	NCBI
cM Map	19	4.3	NCBI

Cst6
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	1	202,655,322 - 202,657,030 (-)	NCBI
Rnor_6.0 Ensembl	1	220,727,292 - 220,729,000 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	1	220,727,292 - 220,729,000 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	1	227,656,559 - 227,658,267 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	207,991,313 - 207,993,021 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	1	208,144,765 - 208,146,474 (-)	NCBI
Celera	1	200,190,620 - 200,192,328 (-)	NCBI		Celera
Cytogenetic Map	1	q43	NCBI

Cst6
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955422	19,313,352 - 19,327,360 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955422	19,326,302 - 19,327,449 (-)	NCBI	ChiLan1.0	ChiLan1.0

CST6
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	11	64,703,367 - 64,704,865 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	64,703,412 - 64,704,762 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	11	61,375,744 - 61,377,909 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

CST6
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	18	51,263,178 - 51,264,780 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	18	51,263,161 - 51,264,816 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Cst6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936599	3,541,359 - 3,543,206 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CST6
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	6,323,737 - 6,325,477 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	6,323,737 - 6,325,519 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	5,427,434 - 5,429,216 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CST6
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	8,244,483 - 8,246,551 (-)	NCBI
ChlSab1.1 Ensembl	1	8,244,485 - 8,245,968 (-)	Ensembl

Cst6
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624767	20,423,007 - 20,424,773 (-)	NCBI

Position Markers

RH71245

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	65,780,320 - 65,780,862	UniSTS	GRCh37
Build 36	11	65,536,896 - 65,537,438	RGD	NCBI36
Celera	11	63,104,676 - 63,105,218	RGD
Cytogenetic Map	11	q13	UniSTS
HuRef	11	62,106,389 - 62,106,931	UniSTS
GeneMap99-GB4 RH Map	11	247.67	UniSTS
NCBI RH Map	11	573.2	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	303
Count of miRNA genes:	286
Interacting mature miRNAs:	303
Transcripts:	ENST00000312134
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

324

117

Medium

942

639

1375

272

1248

965

Low

1190

967

421

157

314

1575

941

1719

200

943

251

120

584

1124

Below cutoff

1040

892

426

242

925

229

946

1101

1667

133

190

481

540

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001323	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA778147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI127639	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK092391	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP006287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY145051	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC031334	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS501266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U62800	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U81233	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000312134 ⟹ ENSP00000311313

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	66,012,008 - 66,013,505 (+)	Ensembl

RefSeq Acc Id:

NM_001323 ⟹ NP_001314

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	66,012,008 - 66,013,505 (+)	NCBI
GRCh37	11	65,779,462 - 65,780,976 (+)	ENTREZGENE
Build 36	11	65,536,038 - 65,537,552 (+)	NCBI Archive
HuRef	11	62,105,544 - 62,107,045 (+)	ENTREZGENE
CHM1_1	11	65,663,579 - 65,665,098 (+)	NCBI

Sequence:

show sequence

GCGGCCGCAAGCTCGGCACTCACGGCTCTGAGGGCTCCGACGGCACTGACGGCCATGGCGCGTT
CGAACCTCCCGCTGGCGCTGGGCCTGGCCCTGGTCGCATTCTGCCTCCTGGCGCTGCCACGCGA
CGCCCGGGCCCGGCCGCAGGAGCGCATGGTCGGAGAACTCCGGGACCTGTCGCCCGACGACCCG
CAGGTGCAGAAGGCGGCGCAGGCGGCCGTGGCCAGCTACAACATGGGCAGCAACAGCATCTACT
ACTTCCGAGACACGCACATCATCAAGGCGCAGAGCCAGCTGGTGGCCGGCATCAAGTACTTCCT
GACGATGGAGATGGGGAGCACAGACTGCCGCAAGACCAGGGTCACTGGAGACCACGTCGACCTC
ACCACTTGCCCCCTGGCAGCAGGGGCGCAGCAGGAGAAGCTGCGCTGTGACTTTGAGGTCCTTG
TGGTTCCCTGGCAGAACTCCTCTCAGCTCCTAAAGCACAACTGTGTGCAGATGTGATAAGTCCC
CGAGGGCGAAGGCCATTGGGTTTGGGGCCATGGTGGAGGGCACTTCAGGTCCGTGGGCCGTATC
TGTCACAATAAATGGCCAGTGCTGCTTCTTGCAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001314	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB06566	(Get FASTA)	NCBI Sequence Viewer
	AAB61305	(Get FASTA)	NCBI Sequence Viewer
	AAH31334	(Get FASTA)	NCBI Sequence Viewer
	AAN52757	(Get FASTA)	NCBI Sequence Viewer
	CAG33153	(Get FASTA)	NCBI Sequence Viewer
	CAM83949	(Get FASTA)	NCBI Sequence Viewer
	EAW74487	(Get FASTA)	NCBI Sequence Viewer
	Q15828	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_001314 ⟸ NM_001323
- Peptide Label:	precursor
- UniProtKB:	Q15828 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MARSNLPLALGLALVAFCLLALPRDARARPQERMVGELRDLSPDDPQVQKAAQAAVASYNMGSN SIYYFRDTHIIKAQSQLVAGIKYFLTMEMGSTDCRKTRVTGDHVDLTTCPLAAGAQQEKLRCDF EVLVVPWQNSSQLLKHNCVQM hide sequence

RefSeq Acc Id:

ENSP00000311313 ⟸ ENST00000312134

Protein Domains

Cystatin

Promoters

RGD ID:

7221113

Promoter ID:

EPDNEW_H16302

Type:

initiation region

Name:

CST6_2

Description:

cystatin E/M

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H16303

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	66,011,491 - 66,011,551	EPDNEW

RGD ID:

7221115

Promoter ID:

EPDNEW_H16303

Type:

initiation region

Name:

CST6_1

Description:

cystatin E/M

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H16302

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	66,012,008 - 66,012,068	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	copy number loss	See cases [RCV000142881]	Chr11:65741431..67705669 [GRCh38] Chr11:65508902..67473140 [GRCh37] Chr11:65265478..67229716 [NCBI36] Chr11:11q13.1-13.2	pathogenic
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	copy number gain	See cases [RCV000511632]	Chr11:64501919..67129258 [GRCh37] Chr11:11q13.1-13.2	likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	copy number gain	not provided [RCV000767601]	Chr11:65138976..67574402 [GRCh37] Chr11:11q13.1-13.2	pathogenic
NC_000011.9:g.(?_65633902)_(66115026_?)dup	duplication	Autosomal recessive cutis laxa type 1B [RCV000798155]	Chr11:65866431..66347555 [GRCh38] Chr11:65633902..66115026 [GRCh37] Chr11:11q13.1-13.2	uncertain significance
NM_001323.4(CST6):c.361C>T (p.Gln121Ter)	single nucleotide variant	Ectodermal dysplasia 15, hypohidrotic/hair type [RCV000824677]	Chr11:66012946 [GRCh38] Chr11:65780417 [GRCh37] Chr11:11q13.1	pathogenic
NM_001323.4(CST6):c.18C>T (p.Leu6=)	single nucleotide variant	not provided [RCV000888950]	Chr11:66012062 [GRCh38] Chr11:65779533 [GRCh37] Chr11:11q13.1	likely benign

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:2478	AgrOrtholog
COSMIC	CST6	COSMIC
Ensembl Genes	ENSG00000175315	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein	ENSP00000311313	ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000312134	ENTREZGENE, UniProtKB/Swiss-Prot
GTEx	ENSG00000175315	GTEx
HGNC ID	HGNC:2478	ENTREZGENE
Human Proteome Map	CST6	Human Proteome Map
InterPro	Cystatin_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Prot_inh_cystat_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:1474	UniProtKB/Swiss-Prot
NCBI Gene	1474	ENTREZGENE
OMIM	601891	OMIM
	618535	OMIM
Pfam	Cystatin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA26979	PharmGKB
PROSITE	CYSTATIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	SM00043	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	CYTM_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q6IBD2_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	Q540N7	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM